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Article

Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2016

Destouni A, Poulou M, Kakourou G, Vrettou C, Tzetis M, Traeger-Synodinos J, Kitsiou-Tzeli S

Abstract excerpt

BACKGROUND: Institutions offering CF-PGD face the challenge of developing and optimizing single cell genotyping protocols that should cover for the extremely heterogeneous CF mutation spectrum. Here we report the development and successful clinical application of a generic CF-PGD protocol to facilitate direct detection of any CFTR nucleotide variation(s) by HRMA and simultaneous confirmation of diagnosis through...

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Source

Identifiers

PMID: 26493493
DOI: 10.1016/j.jcf.2015.09.009

Genes

PGD
CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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